Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14
disease 0.900 None 1.000 0 1 2001 2011
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.710 strong 1.000 0 1 2007 2018
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
Retinal Dystrophy, Early-Onset Severe, Lrat-Related
disease 0.600 None 1.000 0 2 2008 2011
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
disease 0.600 None 1.000 0 1 2008 2011
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group 0.130 None 1.000 0 1 2011 2014